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. Author manuscript; available in PMC: 2020 Oct 1.
Published in final edited form as: Nature. 2020 Apr 1;580(7803):396–401. doi: 10.1038/s41586-020-2164-5

Extended Data Figure 1. Case-control germline loss-of-function (LoF) variant burden analysis.

Extended Data Figure 1.

a-d. Case-control germline rare LoF variant association analysis in pediatric MB subgroups vs pediatric controls (CEFALO) using burden tests (implemented in SKAT). P values were corrected for multiple testing using Bonferroni correction.

e-h. Case-control germline rare LoF variant association analysis in pediatric MB subgroups vs adult controls (gnomAD) using burden tests (two-sided Fisher’s Exact tests). P values were corrected for multiple testing using Bonferroni correction.

i. Case-control germline LoF burden analysis in pediatric MB vs adult controls (gnomAD).

j-l. Case-control germline LoF burden analysis in infant (j), childhood (k), and adult (1) MBSHH vs adult controls (gnomAD).